Primary immunodeficiencies related to folate and cobalamin transport and metabolism
Bibliographic record
Abstract
Primary immunodeficiency diseases encompass a range of disorders that impact the immune system, resulting in a spectrum of phenotypes and cellular dysfunction. Manifestations may include recurrent infections, failure to thrive, immune dysregulation, as well as other symptoms. The underlying genetic abnormalities affect not only the immune system, but occasionally other organ systems as well. To date, there are over 500 genes known to cause primary immunodeficiency. Notably, inborn errors of metabolism can cause immunodeficiency by compromising critical transporters or enzymes. In particular, folate (vitamin B9) and cobalamin (vitamin B12) are essential for maintenance of hematopoietic function, neurological development, and fetal development. Variants in the genes MTHFD1, TCN2, and SLC46A1, are known to underlie folate and cobalamin-related immunodeficiency. More recently, pathogenic variants in SLC19A1 have been reported as a novel cause of folate deficiency. This review presents a timely overview of immunodeficiency diseases resulting from abnormalities in folate and cobalamin transport and metabolism.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".